Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers

机译：巴基斯坦乙型血友病携带者的诊断和表型评估

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摘要

Objectives:1: To assess the diagnostic utility of three polymorphisms (DdeI, XmnI and TaqI) and direct sequencing in haemophilia B (HB) carrier detection in Pakistani families. 2: To compare phenotypes of HB carriers with those of healthy females.

机译：目的：1：评估三种多态性（DdeI，XmnI和TaqI）和直接测序在巴基斯坦家庭中对B型血友病（HB）携带者的诊断价值。 2：比较HB携带者的表型与健康女性的表型。

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期刊名称 Pakistan Journal of Medical Sciences
作者
Muhammad Tariq Masood Khan; Arshi Naz; Jawad Ahmed; Tahir Sultan Shamsi; Abid Sohail Taj;
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作者单位

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年(卷),期 2017(33),3
年度 2017
页码 738–742
总页数 5
原文格式 PDF
正文语种
中图分类基础医学;
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专利

1. Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers [J] . Pakistan journal of medical sciences. . 2017,第3期

机译：巴基斯坦乙型血友病携带者的诊断和表型评估
2. Management of haemophilia carriers around the time of their delivery: Phenotypic variation requiring customization of management [J] . Girgis M. R., Gusba L., Kuriakose P. Haemophilia: the official journal of the World Federation of Hemophilia . 2018,第3期

机译：在其交付时血友病船的管理：需要定制管理的表型变异
3. Use of two complementary new molecular techniques, next‐generation sequencing and droplet digital PCR, for diagnosis of an F8 F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report [J] . Gangodkar Priyanka, Ranade Shatakshi, Anand Siddharth, Haemophilia: the official journal of the World Federation of Hemophilia . 2018,第6期

机译：使用两种互补新的分子技术，下一代测序和液滴数码PCR，用于诊断F8 F8基因缺失和随后用Hemophilia的载体分析A：案例报告
4. Role of Telemedicine in follow up and monitoring of people with Haemophilia in Northern Pakistan [C] . Zafar, Tahira, Malik, . 2007

机译：远程医疗在巴基斯坦北部血友病患者的随访和监测中的作用
5. Label-Free Phenotypic Detection, Diagnosis, and Characterization of Influenza Virus Using AFM, Raman Spectroscopy (TERS), and Machine Learning Classification [D] . Trexler, Micaela. 2021

机译：使用AFM，拉曼光谱（TERS）和机器学习分类的无标记表型检测，诊断和表征流感病毒
6. The Italian haemophilia B mutation database: a tool for genetic counselling carrier detection and prenatal diagnosis [O] . Giuseppe Tagariello, Donata Belvini, Roberta Salviato, 2007

机译：意大利B型血友病突变数据库：遗传咨询携带者检测和产前诊断的工具
7. Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers [O] . Muhammad Tariq Masood Khan, Arshi Naz, Jawad Ahmed, 2017

机译：巴基斯坦血红英载体的诊断和表型评估

Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers

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